Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01888:Pcm1'

179194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcm1

Ensembl Gene

ENSMUSG00000031592

Gene Name

pericentriolar material 1

Synonyms

9430077F19Rik, C030044G17Rik, 2600002H09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01888

Quality Score

Status

Chromosome

Chromosomal Location

41692789-41785381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41710993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 88 (Y88N)

Ref Sequence

ENSEMBL: ENSMUSP00000147887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000210862] [ENSMUST00000211247]

AlphaFold

Q9R0L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000045218
AA Change: Y88N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: Y88N

Domain	Start	End	E-Value	Type
coiled coil region	218	238	N/A	INTRINSIC
coiled coil region	270	301	N/A	INTRINSIC
coiled coil region	399	426	N/A	INTRINSIC
coiled coil region	492	520	N/A	INTRINSIC
low complexity region	527	548	N/A	INTRINSIC
low complexity region	622	647	N/A	INTRINSIC
coiled coil region	652	683	N/A	INTRINSIC
coiled coil region	724	772	N/A	INTRINSIC
coiled coil region	822	856	N/A	INTRINSIC
coiled coil region	988	1017	N/A	INTRINSIC
low complexity region	1021	1033	N/A	INTRINSIC
low complexity region	1287	1301	N/A	INTRINSIC
Pfam:PCM1_C	1369	1999	3.6e-295	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210862
AA Change: Y88N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211090

Predicted Effect

probably damaging
Transcript: ENSMUST00000211247
AA Change: Y88N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	C	11: 105,859,770 (GRCm39)	V101A	probably benign	Het
Ano5	A	T	7: 51,216,048 (GRCm39)	I342F	probably benign	Het
Arhgef10	C	A	8: 15,012,577 (GRCm39)	Y300*	probably null	Het
Caps2	A	G	10: 112,018,965 (GRCm39)	D210G	probably damaging	Het
Ccdc125	T	C	13: 100,823,610 (GRCm39)		probably benign	Het
Colgalt1	T	A	8: 72,070,318 (GRCm39)	M200K	probably damaging	Het
Dzank1	G	T	2: 144,318,074 (GRCm39)		probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Ist1	T	C	8: 110,410,400 (GRCm39)		probably benign	Het
Or13d1	A	G	4: 52,970,974 (GRCm39)	M118V	probably damaging	Het
Pikfyve	G	A	1: 65,262,799 (GRCm39)	D497N	probably damaging	Het
Pkd1	T	C	17: 24,804,789 (GRCm39)	V3171A	possibly damaging	Het
Slc22a18	T	A	7: 143,033,053 (GRCm39)	V47D	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Swap70	A	T	7: 109,879,841 (GRCm39)	H541L	probably damaging	Het
Tmx3	G	A	18: 90,546,045 (GRCm39)	D209N	probably benign	Het
Tubgcp4	A	G	2: 121,015,228 (GRCm39)	H312R	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r97	A	T	17: 19,149,286 (GRCm39)	K225*	probably null	Het

Other mutations in Pcm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Pcm1	APN	8	41,727,314 (GRCm39)	missense	probably damaging	1.00
IGL00852:Pcm1	APN	8	41,740,858 (GRCm39)	missense	probably damaging	1.00
IGL00896:Pcm1	APN	8	41,729,160 (GRCm39)	missense	possibly damaging	0.70
IGL00927:Pcm1	APN	8	41,740,918 (GRCm39)	missense	probably damaging	1.00
IGL01085:Pcm1	APN	8	41,762,640 (GRCm39)	missense	probably damaging	1.00
IGL01684:Pcm1	APN	8	41,710,960 (GRCm39)	missense	probably benign	0.00
IGL02349:Pcm1	APN	8	41,741,192 (GRCm39)	critical splice donor site	probably null
IGL02562:Pcm1	APN	8	41,778,405 (GRCm39)	missense	probably damaging	1.00
IGL02807:Pcm1	APN	8	41,783,919 (GRCm39)	missense	probably damaging	1.00
IGL03081:Pcm1	APN	8	41,728,097 (GRCm39)	missense	probably damaging	1.00
R0090_Pcm1_148	UTSW	8	41,709,078 (GRCm39)	missense	probably damaging	0.99
R1534_pcm1_826	UTSW	8	41,740,738 (GRCm39)	missense	probably benign
R8169_pcm1_970	UTSW	8	41,763,153 (GRCm39)	missense	possibly damaging	0.58
shaved	UTSW	8	41,741,193 (GRCm39)	critical splice donor site	probably null
D3080:Pcm1	UTSW	8	41,728,976 (GRCm39)	missense	probably damaging	1.00
P0045:Pcm1	UTSW	8	41,741,134 (GRCm39)	missense	probably damaging	0.99
R0090:Pcm1	UTSW	8	41,709,078 (GRCm39)	missense	probably damaging	0.99
R0109:Pcm1	UTSW	8	41,710,974 (GRCm39)	missense	possibly damaging	0.88
R0373:Pcm1	UTSW	8	41,729,148 (GRCm39)	nonsense	probably null
R0386:Pcm1	UTSW	8	41,769,060 (GRCm39)	missense	probably damaging	1.00
R0452:Pcm1	UTSW	8	41,778,942 (GRCm39)	missense	probably benign	0.25
R0498:Pcm1	UTSW	8	41,746,806 (GRCm39)	missense	probably benign	0.01
R0528:Pcm1	UTSW	8	41,768,967 (GRCm39)	missense	probably damaging	1.00
R0587:Pcm1	UTSW	8	41,739,088 (GRCm39)	missense	probably damaging	0.99
R0635:Pcm1	UTSW	8	41,720,216 (GRCm39)	splice site	probably benign
R0725:Pcm1	UTSW	8	41,740,848 (GRCm39)	missense	probably damaging	1.00
R0762:Pcm1	UTSW	8	41,714,057 (GRCm39)	missense	probably damaging	1.00
R0848:Pcm1	UTSW	8	41,735,720 (GRCm39)	missense	probably damaging	1.00
R1027:Pcm1	UTSW	8	41,746,482 (GRCm39)	splice site	probably benign
R1056:Pcm1	UTSW	8	41,774,937 (GRCm39)	missense	probably damaging	1.00
R1534:Pcm1	UTSW	8	41,740,738 (GRCm39)	missense	probably benign
R1566:Pcm1	UTSW	8	41,743,810 (GRCm39)	missense	probably damaging	1.00
R1595:Pcm1	UTSW	8	41,762,672 (GRCm39)	missense	probably damaging	1.00
R1719:Pcm1	UTSW	8	41,766,396 (GRCm39)	missense	possibly damaging	0.62
R1816:Pcm1	UTSW	8	41,762,574 (GRCm39)	missense	probably damaging	0.99
R2177:Pcm1	UTSW	8	41,729,002 (GRCm39)	missense	probably benign
R2495:Pcm1	UTSW	8	41,746,616 (GRCm39)	missense	probably benign
R3737:Pcm1	UTSW	8	41,714,080 (GRCm39)	nonsense	probably null
R3747:Pcm1	UTSW	8	41,785,041 (GRCm39)	missense	probably benign	0.44
R3763:Pcm1	UTSW	8	41,733,114 (GRCm39)	missense	probably damaging	1.00
R3764:Pcm1	UTSW	8	41,783,919 (GRCm39)	missense	probably damaging	1.00
R3798:Pcm1	UTSW	8	41,711,051 (GRCm39)	missense	possibly damaging	0.66
R3968:Pcm1	UTSW	8	41,778,867 (GRCm39)	missense	probably damaging	1.00
R4760:Pcm1	UTSW	8	41,740,775 (GRCm39)	missense	probably damaging	0.99
R4798:Pcm1	UTSW	8	41,746,715 (GRCm39)	missense	probably damaging	1.00
R5062:Pcm1	UTSW	8	41,712,297 (GRCm39)	missense	probably damaging	0.99
R5221:Pcm1	UTSW	8	41,741,193 (GRCm39)	critical splice donor site	probably null
R5250:Pcm1	UTSW	8	41,765,242 (GRCm39)	missense	probably damaging	0.99
R5466:Pcm1	UTSW	8	41,725,499 (GRCm39)	critical splice donor site	probably null
R5470:Pcm1	UTSW	8	41,740,720 (GRCm39)	missense	probably damaging	1.00
R5958:Pcm1	UTSW	8	41,782,016 (GRCm39)	missense	probably damaging	1.00
R6043:Pcm1	UTSW	8	41,781,815 (GRCm39)	missense	possibly damaging	0.54
R6179:Pcm1	UTSW	8	41,736,669 (GRCm39)	missense	probably damaging	0.99
R6186:Pcm1	UTSW	8	41,746,830 (GRCm39)	missense	probably benign	0.23
R6227:Pcm1	UTSW	8	41,783,862 (GRCm39)	missense	probably damaging	0.99
R6368:Pcm1	UTSW	8	41,746,581 (GRCm39)	missense	probably benign	0.09
R6438:Pcm1	UTSW	8	41,778,418 (GRCm39)	missense	possibly damaging	0.94
R6459:Pcm1	UTSW	8	41,714,073 (GRCm39)	missense	probably damaging	1.00
R7399:Pcm1	UTSW	8	41,746,547 (GRCm39)	missense	probably benign	0.11
R7401:Pcm1	UTSW	8	41,762,568 (GRCm39)	missense	probably damaging	1.00
R7478:Pcm1	UTSW	8	41,714,410 (GRCm39)	missense	probably benign	0.17
R7570:Pcm1	UTSW	8	41,720,381 (GRCm39)	missense	possibly damaging	0.64
R7648:Pcm1	UTSW	8	41,728,736 (GRCm39)	missense	probably damaging	0.99
R7773:Pcm1	UTSW	8	41,762,610 (GRCm39)	nonsense	probably null
R7779:Pcm1	UTSW	8	41,782,061 (GRCm39)	missense	probably damaging	1.00
R7842:Pcm1	UTSW	8	41,780,621 (GRCm39)	missense	possibly damaging	0.54
R7863:Pcm1	UTSW	8	41,714,163 (GRCm39)	missense	probably damaging	0.99
R8169:Pcm1	UTSW	8	41,763,153 (GRCm39)	missense	possibly damaging	0.58
R8210:Pcm1	UTSW	8	41,766,974 (GRCm39)	missense	probably damaging	1.00
R8303:Pcm1	UTSW	8	41,736,758 (GRCm39)	missense	probably damaging	1.00
R8397:Pcm1	UTSW	8	41,736,616 (GRCm39)	missense	probably damaging	1.00
R8489:Pcm1	UTSW	8	41,766,437 (GRCm39)	missense	probably benign	0.19
R8519:Pcm1	UTSW	8	41,728,976 (GRCm39)	missense	probably damaging	1.00
R9136:Pcm1	UTSW	8	41,732,825 (GRCm39)	missense	probably benign	0.19
R9245:Pcm1	UTSW	8	41,732,877 (GRCm39)	missense	probably damaging	0.99
R9263:Pcm1	UTSW	8	41,732,790 (GRCm39)	missense	probably benign	0.00
R9406:Pcm1	UTSW	8	41,728,722 (GRCm39)	missense	probably damaging	0.99
R9412:Pcm1	UTSW	8	41,740,788 (GRCm39)	missense	probably damaging	1.00
R9541:Pcm1	UTSW	8	41,780,616 (GRCm39)	missense	probably benign	0.09
R9698:Pcm1	UTSW	8	41,723,541 (GRCm39)	missense	possibly damaging	0.95
R9716:Pcm1	UTSW	8	41,728,168 (GRCm39)	missense	probably damaging	0.98
R9747:Pcm1	UTSW	8	41,757,135 (GRCm39)	missense	probably benign	0.00
R9781:Pcm1	UTSW	8	41,720,398 (GRCm39)	missense	probably damaging	0.99
X0025:Pcm1	UTSW	8	41,783,679 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcm1	UTSW	8	41,740,781 (GRCm39)	missense	probably damaging	0.99
Z1177:Pcm1	UTSW	8	41,727,208 (GRCm39)	missense	possibly damaging	0.94

Posted On

2014-05-07